TEMPERATURE EFFECTS ON PERMEATION OF MODIFIED ATMOSPHERE GAS-MIXTURES THROUGH A LOW-DENSITY POLYETHYLENE PACKAGE FILM

Permeation of CO2 and O2 through a low density polyethylene film was studied with CO2-N2 MiXtures in the temperature range 263-283 K, and with CO2-O2-N2 mixtures in the range 257-313 K. The temperature dependence of the permeabilities of these gases agreed with the Arrhenius expression. The activation energy for carbon dioxide diffusion was between 3.53 x 10(4) and 3.74 x 10(4) J/mol; the activation energy for oxygen diffusion was 3.13 x 10(4) J/mol. The pre-exponential constant for oxygen was higher than that of carbon dioxide in various mixtures. It was also found that the pre-exponential constant of carbon dioxide decreased with increasing CO2 concentration in the mixtures

Mutation Spectrum of Fumarylacetoacetase Gene and Clinical Aspects of Tyrosinemia Type I Disease

Dursun, Ali/0000-0003-1104-9902; Ozgul, Riza Koksal/0000-0002-0283-635XWOS: 000294929800003PubMed: 23430822Tyrosinemia type I (OMIM 276700) is a rare, autosomal recessive disorder caused by a deficiency in the fumarylacetoacetate hydrolase (FAH) enzyme. This study examined the spectrum of FAH gene mutation in 32 patients with tyrosinemia type I. In addition, clinical and biochemical findings were evaluated to establish a genotype phenotype relationship in the patients. Mutation screening was performed using a 50K custom-designed resequencing microarray chip (TR_06_01r520489, Affymetrix) and sequencing analysis. Of the 12 different mutations found, 6 are categorized as novel. Three of the mutations-IVS6-1G>A, D233V, and IVS3-3C>G-are the most common in Turkish patients, comprising 25%, 17.1%, and 12.5% of mutant alleles, respectively. Clinical evaluations suggest that the spectrum of symptoms observed in the patients with very early and early disease were of the more nonspecific form, whereas the patients with late-presenting disease had more of the distinctive form over the course of the disease. This study adds support to the notion that the D233V mutation is specific to the Turkish population

Maple syrup urine disease: Mutation analysis in Turkish patients

Maple syrup urine disease (MSUD), the most frequently occurring organic acidaemia in Turkey, is caused by a deficiency of the activity of branched-chain keto acid dehydrogenase enzyme (BCKAD) complex. Mutation analysis of the E1alpha, E1beta, and E2 genes of the BCKAD complex in 12 Turkish MSUD patients yielded three disease-specific mutations and a polymorphism in the E1alpha gene, none in the E1beta gene and one mutation in the E2 gene. Among them, three missense mutations (Q80E, C213Y, T106M) and the F280F polymorphism occurring in the E1alpha gene and the splice site mutation (IVS3 - 1G > A) in the E2 gene were novel. Three of the missense mutations and the splicing mutation occurred homozygously and caused classical MSUD. One patient carried the splicing mutation homozygously and the T106M mutation in the heterozygous state; this patient is the first case having simultaneously two different mutations in two different genes in the BCKAD complex. IVS3 - 1G > A splicing mutation detected on the E2 gene causes deletion of the first 14 bp of exon 3 in the mutant mRNA extending between 190 and 204 nt. The deletion spans the cleavage point between mitochondrial targeting and lipoyl-bearing site of the E2 protein

Novel mutations in Turkish patients with primary carnitine deficiency

WOS: 00028173500014

Novel homogentisate dioxigenase (HGD) gene mutations in alkaptonuria patients

WOS: 00028173500009